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Article

Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

American journal of medical genetics. Part A - 1 Nov 2012

Verhagen Judith M A, Huijmans Jan G, Williams Monique, van Ruyven Rutger L J, Bergen Arthur A B, Wouters Cokkie H, Brooks Alice S

Abstract excerpt

Genome-wide studies may lead to the discovery of genetic variants of potential clinical importance beyond the aims of the study. We performed single nucleotide polymorphism array analysis in a boy with oculocutaneous albinism to identify copy-neutral regions of homozygosity harboring genes involved in melanin biosynthesis. An unanticipated homozygous deletion of chromosome 5p13.3 was discovered, encompassing not...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 22987308
DOI: 10.1002/ajmg.a.35611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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